Varaico: Literature-Extracted Genetic Variants

MYH3

291 papers

RefSeq Summary

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH)...

Pfam Domains

Myosin_Naa 33–77UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 88–767UCSCMyosin head (motor domain)

Myosin_tail_1aa 844–1925UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 3

HGNC Alias Symbols

MYHC-EMB; MYHSE1; HEMHC; SMHCE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002470.4

p.K527_P528Splc

c.1582-6A>G

Surrounding Variants

1 paper

NM_002470.4

p.P528fs

c.1582_1583fs

1 paper

NM_002470.4

p.E536K

c.1606G>A

1 paper

NM_002470.4

p.D546G

c.1637A>G

1 paper

NM_002470.4

p.N551K

c.1653C>G

1 paper

NM_002470.4

p.N551K

c.1653C>A

1 paper

NM_002470.4

p.Y554*

c.1662T>G

1 paper

NM_002470.4

p.Y554*

c.1662T>A

1 paper

NM_002470.4

p.K527_P528Splc

c.1581+2T>C

4 papers

NM_002470.4

p.K527_P528Splc

c.1581+1G>A

1 paper

NM_002470.4

p.K560N

c.1680G>T

1 paper

NM_002470.4

p.K560N

c.1680G>C

1 paper

NM_002470.4

p.S561delFs

c.1681_1682delGA